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https://www.readbyqxmd.com/read/28723648/cytosine-5-hydroxymethylation-regulates-vhl-gene-expression-in-renal-clear-cell-carcinoma
#1
En-Guang Ma, Yu-Feng Bai, Wei Cao, Yan Cao, Yong-Gang Huang, Huan-Chen Cheng, Rui-Hua An
Cytosine5-hyxymethylation (5hmC)which is a new epigenetic modification form plays important roles in the development and progression of tumors. In the present study, we observed that levels of 5hmC in the promoter region of Von Hippel-Lindau (VHL) were lower in 97 samples of renal clear cell carcinoma tissue than in matched adjacent benign tissues. Moreover, when the cancer tissue samples were divided based on pathological staging, VHL expression and the level of 5hmC in the VHL promoter were both lower in pathological grade III tumors than in grades I or II...
July 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28721348/systematic-genetic-screening-in-a-prospective-group-of-danish-patients-with-pheochromocytoma
#2
Morten Steen Svarer Hansen, Niels Jacobsen, Anja Lisbeth Frederiksen, Lars Lund, Marianne Skovsager Andersen, Dorte Glintborg
Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. Patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic etiology were offered genetic screening for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2)...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/28713626/recurrent-hemorrhage-in-hemangioblastoma-involving-the-posterior-fossa-case-report
#3
Eric Marvin, Asad S Akhter, Jeroen R Coppens
BACKGROUND: Hemangioblastomas (HGBs) are the most common primary intra-axial posterior fossa tumor in adults. Although spontaneous hemorrhage of these tumors is exceedingly rare, despite their vascular nature, we describe a case of recurrent hemorrhage with associated tonsillar herniation, and demonstrate that a surgical approach can provide a suitable outcome. CASE DESCRIPTION: A 54-year-old female with von Hippel-Lindau (VHL) syndrome presented with acute loss of consciousness and Glasgow Coma Scale (GCS) was 4...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28710479/endothelial-cells-by-inactivation-of-vhl-gene-direct-angiogenesis-not-vasculogenesis-via-twist1-accumulation-associated-with-hemangioblastoma-neovascularization
#4
Ying Wang, Dan-Qi Chen, Ming-Yu Chen, Kai-Yuan Ji, De-Xuan Ma, Liang-Fu Zhou
Inactivation of the VHL tumour suppressor gene is a highly frequent genetic event in the carcinogenesis of central nervous system-(CNS) hemangioblastomas (HBs). The patterning of the similar embryonic vasculogenesis is an increasing concern in HB-neovascularization, and the classic vascular endothelial growth factor (VEGF)-mediated angiogenesis driven by VHL loss-of-function from human endothelium have been questioned. With this regard, we identify a distinct, VHL silencing-driven mechanism in which human vascular endothelial cells by means of increasing cell proliferation and decreasing cell apoptosis, is concomitant with facilitating accumulation of Twist1 protein in vascular endothelial cells in vitro...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28710314/sarcomatoid-renal-cell-carcinoma-has-a-distinct-molecular-pathogenesis-driver-mutation-profile-and-transcriptional-landscape
#5
Zixing Wang, Tae Beom Kim, Bo Peng, Jose A Karam, Chad J Creighton, Aron Y Joon, Fumi Kawakami, Patricia Trevisan, Eric Jonasch, Chi-Wan Chow, Jaime Rodriguez-Canales, Pheroze Tamboli, Nizar M Tannir, Christopher G Wood, Federico A Monzon, Keith A Baggerly, Marileila Varella-Garcia, Bogdan Czerniak, Ignacio I Wistuba, Gordon B Mills, Kenna Shaw, Ken Chen, Kanishka Sircar
Sarcomatoid renal cell carcinoma (SRCC) ranks among the most aggressive clinicopathologic phenotypes of RCC. However, the paucity of high-quality, genome-wide molecular examinations of SRCC has hindered our understanding of this entity.<br /><br />Experimental Design: We interrogated the mutational, copy number, and transcriptional characteristics of SRCC and compared these data with those of non-sarcomatoid RCC (RCC). We evaluated whole exome sequencing, single nucleotide polymorphism, and RNA sequencing data from patients with SRCC (n=65) and RCC (n=598) across different parent RCC subtypes, including clear cell RCC, papillary RCC, and chromophobe RCC subtypes...
July 14, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28701475/hif-activation-causes-synthetic-lethality-between-the-vhl-tumor-suppressor-and-the-ezh1-histone-methyltransferase
#6
Abhishek A Chakraborty, Eijiro Nakamura, Jun Qi, Amanda Creech, Jacob D Jaffe, Joshiawa Paulk, Jesse S Novak, Kshithija Nagulapalli, Samuel K McBrayer, Glenn S Cowley, Javier Pineda, Jiaxi Song, Yaoyu E Wang, Steven A Carr, David E Root, Sabina Signoretti, James E Bradner, William G Kaelin
Inactivation of the von Hippel-Lindau tumor suppressor protein (pVHL) is the signature lesion in the most common form of kidney cancer, clear cell renal cell carcinoma (ccRCC). pVHL loss causes the transcriptional activation of hypoxia-inducible factor (HIF) target genes, including many genes that encode histone lysine demethylases. Moreover, chromatin regulators are frequently mutated in this disease. We found that ccRCC displays increased H3K27 acetylation and a shift toward mono- or unmethylated H3K27 caused by an HIF-dependent increase in H3K27 demethylase activity...
July 12, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28697137/clinical-profile-of-pancreatic-cystic-lesions-in-von-hippel-lindau-disease-a-series-of-48-patients-seen-at-a-tertiary-institution
#7
Ayush Sharma, Saurabh Mukewar, Santhi Swaroop Vege
OBJECTIVES: Little is known about the association between pancreatic cystic lesions (PCLs) with von Hippel-Lindau disease (VHLD). In this study, we describe the clinical presentation, type of PCLs, and risk for malignancy in PCLs in VHLD. METHODS: Patients given a diagnosis of both VHLD and PCLs were identified from electronic medical records at Mayo Clinic, Rochester, MN, from January 1, 2000, to January 1, 2016. Various demographic, clinical, and radiologic variables were recorded...
August 2017: Pancreas
https://www.readbyqxmd.com/read/28689235/qsar-modeling-and-in-silico-design-of-small-molecule-inhibitors-targeting-the-interaction-between-e3-ligase-vhl-and-hif-1-formula-see-text
#8
Jing Pan, Yanmin Zhang, Ting Ran, Anyang Xu, Xin Qiao, Lingfeng Yin, Weineng Zhou, Lu Zhu, Junnan Zhao, Tao Lu, Yadong Chen, Yulei Jiang
Protein-protein interactions (PPIs) have attracted much attention recently because of their preponderant role in most biological processes. The prevention of the interaction between E3 ligase VHL and HIF-1[Formula: see text] may improve tolerance to hypoxia and ameliorate the prognosis of many diseases. To obtain novel potent inhibitors of VHL/HIF-1[Formula: see text] interaction, a series of hydroxyproline-based inhibitors were investigated for structural optimization using a combination of QSAR modeling and molecular docking...
July 8, 2017: Molecular Diversity
https://www.readbyqxmd.com/read/28682831/liver-metastases-from-renal-oncocytoma-with-vascular-extension
#9
Giovanni Cacciamani, Luca Cima, Miriam Ficial, Giovanni Novella, Salvatore Siracusano, Umberto Tedeschi, Matteo Balzarro, Umberto Montin, Maria A Cerruto, Vincenzo De Marco, Antonio B Porcaro, Ondrej Hes, Antonia DʼErrico, Guido Martignoni, Claudio Ghimenton, Gianluigi Zaza, Walter Artibani, Matteo Brunelli, Albino Eccher
The 2016 World Health Organization Renal Tumor Classification defines renal oncocytoma (RO) as a benign epithelial tumor; however, malignant histopathologic features have been documented. Rare cases with metastases have been reported. We describe the case of a 62-year-old woman who was referred to the Urology Clinic for a routine work-up. Magnetic resonance imaging and computerized tomography showed a 7-cm mass in the middle and lower portions of the left kidney and 2 suspected liver metastases. The patient underwent surgery...
July 4, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28670632/systemic-sunitinib-malate-treatment-for-advanced-juxtapapillary-retinal-hemangioblastomas-associated-with-von-hippel-lindau-disease
#10
Jared E Knickelbein, Naima Jacobs-El, Wai T Wong, Henry E Wiley, Catherine A Cukras, Catherine B Meyerle, Emily Y Chew
PURPOSE: To describe the clinical course of advanced juxtapapillary retinal capillary hemangioblastomas (RCH) associated with von Hippel-Lindau (VHL) disease treated with systemic sunitinib malate, an agent that inhibits both anti-vascular endothelial growth factor and anti-platelet-derived growth factor signaling. DESIGN: Observational case review. PARTICIPANTS: Three patients with advanced VHL-related juxtapapillary RCH treated with systemic sunitinib malate...
May 2017: Ophthalmology retina
https://www.readbyqxmd.com/read/28667082/new-hif2a-inhibitors-implications-for-pheochromocytomas-and-paragangliomas
#11
Rodrigo Almeida Toledo
Two recent independent studies published in Nature show robust responses of clear cell renal cell carcinoma (ccRCC) cell lines, preclinical ccRCC xenograft models and, remarkably, a patient with progressive ccRCC despite receiving multiple lines of treatment, to the long-awaited, recently developed inhibitors of hypoxia-inducible factor 2-alpha (HIF2α). This Commentary is based on the recognition of similar molecular drivers in ccRCC and the endocrine neoplasias pheochromocytomas and paragangliomas (PPGLs), ultimately leading to stabilization of HIFs...
June 30, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28662711/repurposing-propranolol-as-a-drug-for-the-treatment-of-retinal-haemangioblastomas-in-von-hippel-lindau-disease
#12
Virginia Albiñana, Rosa María Jiménez Escribano, Isabel Soler, Luis Rodríguez Padial, Lucia Recio-Poveda, Karina Villar Gómez de Las Heras, Luisa María Botella
BACKGROUND: Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (CNS) and retina, renal carcinoma and pheochromocytomas are the most common tumours. The absence of treatment for VHL leads to the need of repeated surgeries as the only option for these patients. Targeting VHL-derived tumours with drugs with reduced side effects is urgent to avoid repeated CNS surgeries...
June 29, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28651893/epidemiology-and-clinical-characteristics-of-hemangioblastomas-in-the-elderly-an-update
#13
Ju-Yoon Yoon, Andrew Gao, Sunit Das, David G Munoz
Hemangioblastomas are benign tumors, derived from "stromal" cells of unclear origin. While previously thought to be a rare entity in elderly patients, we had previously reported a case series of six elderly patients (aged over 65years at diagnosis) diagnosed with hemangioblastoma in our 12year experience. Here, we report a followup series, describing eight additional cases of hemangioblastomas diagnosed in elderly patients (out of 26 in subjects over age 18). Seven of the eight cases were sporadic, and one case was suspicious for being associated with the von Hippel-Lindau (VHL) syndrome...
June 23, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28650600/clear-cell-neuroendocrine-tumor-of-the-pancreas-in-von-hippel-lindau-disease-a-case-report-and-literature-review
#14
(no author information available yet)
Clear cell neuroendocrine tumor (NET) of the pancreas is found in von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type I (MEN I), and sporadic form. Clear cell NETs are often misdiagnosed as metastatic renal cell carcinoma. A 47-year-old woman with VHL was found to have a mass in the pancreatic tail and two masses in the right kidney with two cysts. A distal pancreatectomy and right radical nephrectomy were performed. The pancreatic lesion was a well-circumscribed, golden-yellow solid mass, which was lobulated by septal fibrosis...
May 26, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28650583/von-hippel-lindau-development-in-children-and-adolescents
#15
Karoline Launbjerg, Iben Bache, Michael Galanakis, Marie Luise Bisgaard, Marie Louise M Binderup
The autosomal dominant von Hippel-Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma, and renal cell carcinoma. Knowledge of paediatric vHL development is limited, and current surveillance guidelines are based on expert opinions. We aimed to describe the course of vHL development in children and adolescents, focusing on age at first manifestation, manifestation frequencies, and types. The prevalence of vHL diagnosis as well as manifestations in childhood were evaluated based on 99 patients, who had started surveillance before 18 years: 37 Danish patients from the national vHL research database and 62 international patients reported in 15 articles...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#16
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28643803/vhl-deficiency-augments-anthracycline-sensitivity-of-clear-cell-renal-cell-carcinomas-by-down-regulating-aldh2
#17
Yao-Hui Gao, Zhao-Xia Wu, Li-Qi Xie, Cai-Xia Li, Yu-Qin Mao, Yan-Tao Duan, Bing Han, San-Feng Han, Yun Yu, Hao-Jie Lu, Peng-Yuan Yang, Tian-Rui Xu, Jing-Lin Xia, Guo-Qiang Chen, Li-Shun Wang
The von Hippel-Lindau (VHL) is deficient in ∼70% of clear-cell renal cell carcinomas (ccRCC), which contributes to the carcinogenesis and drug resistance of ccRCC. Here we show that VHL-deficient ccRCC cells present enhanced cytotoxicity of anthracyclines in a hypoxia-inducible factor-independent manner. By subtractive proteomic analysis coupling with RNAi or overexpression verification, aldehyde dehydrogenase 2 (ALDH2) is found to be transcriptionally regulated by VHL and contributes to enhanced anthracyclines cytotoxicity in ccRCC cells...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28632992/targeting-the-rhogtpase-rock-pathway-for-the-treatment-of-vhl-hif-pathway-driven-cancers
#18
Jordan M Thompson, Jaime Landman, Olga V Razorenova
The loss of the von Hippel-Lindau (VHL) tumor-suppressor is a major driver of Clear Cell Renal Cell Carcinoma (CC-RCC) resulting in the stabilization and overactivation of hypoxia inducible factors (HIFs). ROCK 1 is a well-known protein serine/threonine kinase which is recognized as having a role in cancer including alterations in cell motility, metastasis and angiogenesis. As a function of the later effect, we recently investigated and identified a synthetic lethal interaction between VHL loss and ROCK1 inhibition in CC-RCC that is dependent on HIF overactivation...
June 20, 2017: Small GTPases
https://www.readbyqxmd.com/read/28630796/von-hippel-lindau-disease-the-importance-of-retinal-hemangioblastomas-in-diagnosis
#19
Sevinç Şahin Atik, Aslı Ece Solmaz, Zafer Öztaş, Emine Deniz Eğrilmez, Şeyda Uğurlu, Tahir Atik, Filiz Afrashi
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-year-old man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation. Family history showed that his mother had unilateral vision loss and died because of renal cell carcinoma. Ophthalmologic examination revealed multiple retinal hemangioblastomas in both eyes...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630416/hif-1-mediated-suppression-of-mitochondria-electron-transport-chain-function-confers-resistance-to-lidocaine-induced-cell-death
#20
Akihisa Okamoto, Chisato Sumi, Hiromasa Tanaka, Munenori Kusunoki, Teppei Iwai, Kenichiro Nishi, Yoshiyuki Matsuo, Hiroshi Harada, Keizo Takenaga, Hidemasa Bono, Kiichi Hirota
The local anesthetic lidocaine induces cell death by altering reactive oxygen species (ROS) generation and mitochondrial electron transport chain function. Because hypoxia-inducible factor 1 (HIF-1) is involved in determining oxygen metabolism and mitochondria function, we investigated the involvement of HIF-1 activity in lidocaine-induced cell death. We investigated the role of HIF activation on lidocaine-induced caspase activation and cell death in renal cell-derived RCC4 cells lacking functional von Hippel-Lindau (VHL) protein...
June 19, 2017: Scientific Reports
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